Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

(2019) Ruth Cleaver et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

(2018) Caroline Alby et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome

(2018) Emilia Stellacci et al.   HUMAN MUTATION

Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

(2018) Sigrún Grímsdóttir et al.   CLINICAL DYSMORPHOLOGY

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders

(2017) Mari Rossi et al.   PEDIATRIC NEUROLOGY

Novel de novo mutations inZBTB20in Primrose syndrome with congenital hypothyroidism

(2016) Francesca Mattioli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Mutations in ZBTB20 cause Primrose syndrome

(2014) Viviana Cordeddu et al.   NATURE GENETICS

Additional features of unique Primrose syndrome phenotype

(2011) Daniel Rocha Carvalho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Zinc Finger Protein Zbtb20 Is Essential for Postnatal Survival and Glucose Homeostasis

(2009) A. P. R. Sutherland et al.   MOLECULAR AND CELLULAR BIOLOGY

Zinc finger protein ZBTB20 is a key repressor of alpha-fetoprotein gene transcription in liver

(2008) Z. Xie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA